Life Sciences Summer
Undergraduate Research Program

Title: Natural Selection Test For FOXP2 Gene in Amazona vittata

My desire to expand my knowledge in Genetics led me to contact Professor Martínez-Cruzado as a high school student. He accepted me as part of his team in Population and Evolutionary Genetics Research Laboratory: an amazing opportunity that came with various challenges for which I am now very grateful. While I was still sixteen years old, I attended as a listener to the Genomic Annotation graduate course that Professor Martinez offered. With the knowledge I gained in the class, I was able to start my own research on the annotation of the FOXP2 gene in Amazona vittata, the Puerto Rican parrot. This gene encodes for acquisition of language in humans and is also present in other animals as the Rhesus macaque, the Zebra fish, etc. Then, natural selection tests were practiced in search of the evolution these gene has undergone on the parrot. With this research I was able to attend my first professional conference, International Science and Engineering Fair 2013, at Phoenix, Arizona while I was just about to graduate high school. 

Title: Distribution of a Wilson's Disease Causing Loss-of-Function Mutation in Gene ATP7B in Southwest Puerto Rico

Currently, I still work with Professor Martínez-Cruzado and particularly study the ATP7B gene as part of the 1000 Genomes project, which searches to study the genetic background and variants in many countries of the world. This gene encodes for an ATPase for cellular transport of copper within hepatocytes. Ninety percent of Wilson Disease (WD) cases are caused by a loss-of-function mutation in this gene, leading to a decreased excretion of copper into bile. Copper then accumulates in the liver and eventually flows with the bloodstream. It is then accumulated in other organs, such as the kidneys, corneas, and the brain with probable fatal consequences. This is why I am tracing the distribution of three Single Nucleotide Polymorphisms (SNPs), one of which in its homozygous form causes WD and other two which may regulate the level of expression of the disease.  With the results obtained, a recommendation could be made to test for this SNP as a routine exam for newborns across Puerto Rico. Fortunately, I also got to present this research at the Annual Biomedical Research Conference for Minority Students 2015 at Seattle, Washington.